ORPHA:572798
WARS2-related combined oxidative phosphorylation defect
Also known as: Mitochondrial tryptophanyl-tRNA synthetase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
13
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
63
Distinct authors in sample
Gene link
WARS2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe with early fatal lactic , a more protracted course with early-onset , motor weakness, extrapyramidal signs, and with or without , and a with normal early development and Parkinson-like symptoms starting around the age of one year. Additional, variably reported, signs and symptoms include , optic anomalies, , and abnormal brain MRI findings, among others. Deficiencies in oxidative phosphorylation enzymes are inconsistent.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0060578
- OMIM:617710
- UMLS:C4540192
Additional Mondo synonyms (2)
mitochondrial tryptophanyl-tRNA synthetase deficiency · neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — WARS2
- LiteraturePresent
13 matched papers (13 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (WARS2).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
13
13 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
13 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 13 · MeSH hits: 0
Who's working on it?
63
Distinct author names in 13 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Jones K2 papers · 2020
1 Neurology Division, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
Papers in Europe PMC - 02Kozenko M2 papers · 2020
2 Genetics Division, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
Papers in Europe PMC - 03Tarnopolsky M2 papers · 2020
3 Neuromuscular and Neurometabolics Division, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
Papers in Europe PMC - 04Baruffini E1 paper · 2021
Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze 11/A, 43124 Parma, Italy.
Papers in Europe PMC - 05Calakos N1 paper · 2025
Department of Neurology, Duke University Medical Center, Durham, North Carolina, USA.
Papers in Europe PMC - 06Cavalcanti ARO1 paper · 2022
Department of Biology, Pomona College, Claremont, CA, United States.
Papers in Europe PMC - 07Ceccatelli Berti C1 paper · 2021
Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parco Area delle Scienze 11/A, 43124 Parma, Italy.
Papers in Europe PMC - 08Chen YH1 paper · 2023
Department of Pediatrics, Fujian Medical University Union Hospital, 29 Xinquan Road, Fuzhou, Fujian, China.
Papers in Europe PMC - 09Chen ZH1 paper · 2023
Department of Pediatrics, The Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, China.
Papers in Europe PMC - 10Coller JM1 paper · 2019
Department of Genetics and Genome Sciences and Center for RNA Science and Therapeutics, Case Western Reserve University, Cleveland, Ohio 44106, USA; email: ashleigh.schaffer@case.edu.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"WARS2-related combined oxidative phosphorylation defect" OR "Mitochondrial tryptophanyl-tRNA synthetase deficiency" OR "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"WARS2-related combined oxidative phosphorylation defect" OR "Mitochondrial tryptophanyl-tRNA synthetase deficiency" OR "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" OR "WARS2"
Recall-expansion terms: WARS2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T18:33:50.788Z